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NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 8, 2020
Accession:
VCV000068286.5
Variation ID:
68286
Description:
single nucleotide variant
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NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)

Allele ID
79177
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 119029311 (GRCh38) GRCh38 UCSC
11: 118900021 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.118900021C>T
NM_001164277.1:c.59G>A NP_001157749.1:p.Gly20Asp missense
LRG_187:g.6596G>A
... more HGVS
Protein change
G20D
Other names
-
Canonical SPDI
NC_000011.10:119029310:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA219337
UniProtKB/Swiss-Prot: VAR_025581
dbSNP: rs193302881
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Oct 8, 2020 RCV000699431.4
Likely pathogenic 2 criteria provided, single submitter May 28, 2019 RCV000059137.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC37A4 - - GRCh38
GRCh38
GRCh37
686 719

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 27, 2018)
criteria provided, single submitter
Method: clinical testing
Glucose-6-phosphate transport defect
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000920222.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: SLC37A4 c.59G>A (p.Gly20Asp) results in a non-conservative amino acid change located in the Major facilitator superfamily domain (IPR020846) of the encoded protein sequence. … (more)
Likely pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Mendelics
Accession: SCV001135039.1
Submitted: (Oct 29, 2019)
Evidence details
Likely pathogenic
(Oct 08, 2020)
criteria provided, single submitter
Method: clinical testing
Glucose-6-phosphate transport defect
Allele origin: germline
Invitae
Accession: SCV000828142.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces glycine with aspartic acid at codon 20 of the SLC37A4 protein (p.Gly20Asp). The glycine residue is highly conserved and there is … (more)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
UniProtKB/Swiss-Prot
Accession: SCV000090666.1
Submitted: (Sep 27, 2011)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. Jun HS Blood 2014 PMID: 24565827
Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib. Chen LY Human molecular genetics 2002 PMID: 12444104
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. Matern D European journal of pediatrics 2002 PMID: 12373566
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. Galli L FEBS letters 1999 PMID: 10518030
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. Veiga-da-Cunha M American journal of human genetics 1998 PMID: 9758626

Text-mined citations for rs193302881...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 30, 2021